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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Arbustini E, et al. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657
Aneurysm syndromes and TGF-beta receptor mutations.
Arbustini E, Marziliano N, Magrassi L. Arbustini E, et al. N Engl J Med. 2006 Nov 16;355(20):2155; author reply 2156. doi: 10.1056/NEJMc062573. N Engl J Med. 2006. PMID: 17108349 No abstract available.
EDG3 and SHC3 on chromosome 9q22 are co-amplified in human ependymomas.
Magrassi L, Marziliano N, Inzani F, Cassini P, Chiaranda I, Skrap M, Pizzolito S, Arienta C, Arbustini E. Magrassi L, et al. Among authors: arbustini e. Cancer Lett. 2010 Apr 1;290(1):36-42. doi: 10.1016/j.canlet.2009.08.023. Epub 2009 Sep 12. Cancer Lett. 2010. PMID: 19748727
Impediments to Heart Transplantation in Adults With MELASMT-TL1:m.3243A>G Cardiomyopathy.
Di Toro A, Urtis M, Narula N, Giuliani L, Grasso M, Pasotti M, Pellegrini C, Serio A, Pilotto A, Antoniazzi E, Rampino T, Magrassi L, Valentini A, Cavallini A, Scelsi L, Ghio S, Abelli M, Olivotto I, Porcu M, Gavazzi A, Kodama T, Arbustini E. Di Toro A, et al. Among authors: arbustini e. J Am Coll Cardiol. 2022 Oct 11;80(15):1431-1443. doi: 10.1016/j.jacc.2022.04.067. J Am Coll Cardiol. 2022. PMID: 36202533 Free article.
Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.
Narula N, Favalli V, Tarantino P, Grasso M, Pilotto A, Bellazzi R, Serio A, Gambarin FI, Charron P, Meder B, Pinto Y, Elliott PM, Mogensen J, Bolognesi M, Bollati M, Arbustini E. Narula N, et al. Among authors: arbustini e. J Am Coll Cardiol. 2012 Nov 6;60(19):1916-20. doi: 10.1016/j.jacc.2012.05.059. Epub 2012 Oct 10. J Am Coll Cardiol. 2012. PMID: 23062543 Free article.
485 results